A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34435



Internal ID12990474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:78589055..78644808hg38UCSC Ensembl
Innerchr14:79055398..79111151hg19UCSC Ensembl
Innerchr14:78125151..78180904hg18UCSC Ensembl
Innerchr14:78125151..78180904hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3855754
hg1955754
hg1855754
hg1755754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989172, essv6987781
SamplesNA10831
Known GenesNRXN3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34435
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer